Merosin negative congenital muscular dystrophy: a short report.
dc.contributor.author | Ralte, A M | en_US |
dc.contributor.author | Sharma, M C | en_US |
dc.contributor.author | Gulati, S | en_US |
dc.contributor.author | Das, M | en_US |
dc.contributor.author | Sarkar, C | en_US |
dc.date.accessioned | 2003-09-04 | en_US |
dc.date.accessioned | 2009-06-03T12:25:04Z | |
dc.date.available | 2003-09-04 | en_US |
dc.date.available | 2009-06-03T12:25:04Z | |
dc.date.issued | 2003-09-04 | en_US |
dc.description.abstract | We report a rare case of an infant with congenital muscular dystrophy who presented at birth with marked generalized hypotonia and normal mental development. Creatinine phosphokinase (CPK) level was markedly raised; however no white matter abnormalities were detected by brain imaging techniques. Immunohistochemical staining for merosin (laminin alpha 2) was negative, thereby confirming merosin-deficient congenital muscular dystrophy. | en_US |
dc.description.affiliation | Department of Pathology, All India Institute of Medical Sciences, Ansarinagar, New Delhi - 110029, India. | en_US |
dc.identifier.citation | Ralte AM, Sharma MC, Gulati S, Das M, Sarkar C. Merosin negative congenital muscular dystrophy: a short report. Neurology India. 2003 Sep; 51(3): 417-9 | en_US |
dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/121540 | |
dc.language.iso | eng | en_US |
dc.source.uri | https://neurologyindia.com | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Infant | en_US |
dc.subject.mesh | Laminin --deficiency | en_US |
dc.subject.mesh | Muscle, Skeletal --metabolism | en_US |
dc.subject.mesh | Muscular Dystrophies --congenital | en_US |
dc.title | Merosin negative congenital muscular dystrophy: a short report. | en_US |
dc.type | Case Reports | en_US |
dc.type | Journal Article | en_US |
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